Canonical Allele Identifier: CA1267300
Gene: NPHS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 447877
dbSNP Id: rs201050491

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179575683G>A , CM000663.2:g.179575683G>A GRCh38
NC_000001.10:g.179544818G>A , CM000663.1:g.179544818G>A GRCh37
NC_000001.9:g.177811441G>A NCBI36
NG_007535.1:g.5267C>T , LRG_887:g.5267C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.182C>T MANE Select ENSP00000356587.4:p.Ala61Val
ENST00000367615.8:c.182C>T ENSP00000356587.4:p.Ala61Val
ENST00000367616.4:c.182C>T ENSP00000356588.4:p.Ala61Val
NM_001297575.1:c.182C>T NP_001284504.1:p.Ala61Val
NM_014625.3:c.182C>T , LRG_887t1:c.182C>T NP_055440.1:p.Ala61Val
XM_005245483.2:c.182C>T XP_005245540.1:p.Ala61Val
XM_006711529.2:c.182C>T XP_006711592.1:p.Ala61Val
XM_005245483.3:c.182C>T XP_005245540.1:p.Ala61Val
XM_017002298.1:c.182C>T XP_016857787.1:p.Ala61Val
XM_017002299.1:c.182C>T XP_016857788.1:p.Ala61Val
NM_001297575.2:c.182C>T NP_001284504.1:p.Ala61Val
NM_014625.4:c.182C>T MANE Select NP_055440.1:p.Ala61Val